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Therefore, the position of the urethral meatus becomes abnormally located along the length of the ventral shaft of the penis, scrotum, or perineum. Chordee (curvature of the penis with ventral shortening) is often present as well.
Alternatively, hypospadias has also been described as anterior (urethral meatus glandular or coronal), middle (penile shaft), and posterior (penoscrotal, scrotal, perineal). Approximately 50% of cases are anterior, 30% are middle, and 20% are posterior.
Hypospadias can be diagnosed with ultrasound as a “blunt tip” appearance of the penis on ultrasound, which indicates abnormal tapering of the distal phallus (Figure 1). Ventral shortening and curvature of the penis represents chordee. A “buried” appearance of the penis has been described, in which the penis is significantly foreshortened. The “tulip sign” describes severe hypospadias, in which there is penoscrotal transposition, and the penis is curved and located between the folds of a bifid scrotum. Finally, ventral deflection of the urinary stream in a fan shape has been described; power or color Doppler may be used to illustrate an abnormal origin of the urinary stream.
However, as most cases are mild, many cases are not detected at all before birth. Some data have suggested that 3-dimensional ultrasound may give a more precise depiction of the urogenital structures with higher diagnostic yield (Figure 2).
A variety of genetic, endocrine, and environmental etiologies have been proposed that may increase the risk of hypospadias. A two-hit hypothesis has been suggested, in which an environmental insult combines with an underlying genetic predisposition.
In addition, it is important to distinguish between hypospadias and abnormal female genitalia, such as clitoromegaly. One method that has been described to differentiate between male and female genitalia is to measure the angle of the genital tubercle from a horizontal line through the lumbosacral skin surface in the midsagittal plane; if this angle is >30°, the sex is likely to be male.
Hypospadias is an isolated finding in most cases. Familial inheritance of isolated hypospadias has been documented in an autosomal dominant or X-linked manner in some cases. Recurrence risk may be as high as 14% for a sibling of an affected child, and approximately 4% to 10% of affected boys have an affected father.
Hypospadias also can be associated with underlying genetic syndromes, such as Smith-Lemli-Opitz, Wolf-Hirschhorn, multiple lentigines, Opitz G/BBB, Schilbach-Rott, hand-foot-genital, Elsahy-Waters, Pallister-Hall, Bardet-Biedl, Mowat-Wilson, trisomies 13 and 18, triploidy, and many others.
Microdeletion syndromes, such as 19q13.11 and 9p24.3, have been associated with hypospadias. Finally, androgen insensitivity, adrenal hyperplasia, and other endocrine abnormalities have been reported in conjunction with hypospadias, many as part of an underlying syndrome.
Diagnostic testing (amniocentesis) should be offered when hypospadias is detected, including specifically chromosomal microarray analysis (CMA). If there are additional anomalies, consanguinity, or a family history of a specific condition, gene panel testing or exome sequencing is sometimes useful because CMA does not detect single-gene (Mendelian) disorders. If exome sequencing is pursued, appropriate pretest and posttest genetic counseling by a provider experienced in the complexities of genomic sequencing is recommended. After appropriate counseling, cell-free DNA screening is an option for patients who decline diagnostic evaluation and can be helpful in determining biologic sex with severe hypospadias or ambiguous genitalia.
Pregnancy and Delivery Management
Expectant families may be advised that hypospadias is often an isolated finding, but additional anomalies or underlying genetic syndromes are possible. Insufficient evidence exists regarding any potential benefit of antenatal testing, although this is not typically recommended with isolated hypospadias. Timing and mode of delivery should be based on usual obstetrical indications.
The most frequent complications of hypospadias are stenosis of the urethral meatus and difficulty controlling the urinary stream.
Hypospadias is treated with surgery. Prognosis is very favorable among cases of isolated hypospadias. However, outcomes can be more variable in the setting of multiple anomalies or an underlying genetic syndrome.
Hypospadias is an anomaly of the male genitourinary system that results in the abnormal location of the urethral meatus along the length of the ventral shaft of the penis, scrotum, or perineum. Characteristic ultrasound findings, such as “blunt tip,” chordee, or the “tulip sign,” may lead to the diagnosis. A large number of genetic, endocrine, and environmental etiologies have been described in association with hypospadias. Hypospadias is often an isolated finding, although it can be transmitted through families. In addition, it can be associated with additional anomalies in 7% to 40% of cases, most of which affect the genitourinary system but may affect other organ systems as well. Diagnostic testing with amniocentesis should be offered when hypospadias is detected, and standard obstetrical principles should guide timing and mode of delivery. Prognosis is very favorable among isolated cases of hypospadias, although it is more variable in the setting of multiple anomalies or an underlying genetic syndrome.
Ultrasound diagnosis of fetal hypospadias: accuracy and outcomes.